RBM20 and familial dilated cardiomyopathy: In the curation of RBM20, several variants contributing to the genetic evidence score included those within the described hot spot region in exon 9 (amino acids 634 and 636–638).27 However, additional missense variants were identified and scored outside of the hot spot region, providing support that variation in addition to that of the exon 9 region may contribute to the DCM phenotype.